Variant report

Variant	rs4894062
Chromosome Location	chr2:179761990-179761991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179759513..179761181-chr2:179761967..179763656,2	MCF-7	breast:
2	chr2:179758444..179761405-chr2:179761533..179763103,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10167919	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1387473	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1489490	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747402	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750760	0.83[ASN][1000 genomes]
rs7562602	0.83[ASN][1000 genomes]
rs955738	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179713400-179778600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:179730800-179770800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:179733200-179779200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr2:179749600-179772800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:179751200-179775200	Weak transcription	Pancreas	Pancrea
9	chr2:179753600-179768600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:179753600-179768600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179759800-179762400	Enhancers	Fetal Heart	heart
12	chr2:179760400-179764400	Weak transcription	HSMM	muscle
13	chr2:179761200-179764200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:179761200-179782800	Weak transcription	Right Ventricle	heart
15	chr2:179761400-179763000	Strong transcription	Primary T cells from cord blood	blood
16	chr2:179761400-179763200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:179761600-179763800	Weak transcription	HSMMtube	muscle
18	chr2:179761800-179762000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:179761800-179762600	Weak transcription	Psoas Muscle	Psoas
20	chr2:179761800-179763000	Weak transcription	Aorta	Aorta
21	chr2:179761800-179765400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179761800-179769200	Weak transcription	Left Ventricle	heart
23	chr2:179761800-179774800	Weak transcription	Fetal Muscle Leg	muscle

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